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(2005) Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects

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Interestingly, a SLC25A39 -associated human phenome analysis using 4,000 traits in the UK Biobank (n=361,194 subjects) revealed reticulocyte count and hemoglobin concentration as the top significant phenotypes associated with genetically regulated SLC25A39 expression (Extended Data Fig

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The study revealed that, in the presence of mutant HTT, a significant portion of genes with altered expression exhibited pronounced changes in DNA methylation, particularly in regions with low CpG content known to undergo methylation changes due to neuronal activity